A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia

被引：1
|
作者：
Kuroda, Yukiko [1 ]
Saito, Yoko [1 ]
Enomoto, Yumi [2 ]
Naruto, Takuya [2 ]
Kurosawa, Kenji [1 ]
机构：
[1] Kanagawa Childrens Med Ctr, Div Med Genet, 2-138-4 Mutsukawa,Minami Ku, Yokohama, Kanagawa, Japan
[2] Kanagawa Childrens Med Ctr, Clin Res Inst, Yokohama, Kanagawa, Japan
来源：
CLINICAL DYSMORPHOLOGY | 2024年 / 33卷 / 02期
关键词：
DE-NOVO VARIANTS; BRAIN MALFORMATIONS; MUTATIONS;
D O I：
10.1097/MCD.0000000000000484
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：75 / 78
页数：4
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